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disease: Myopathy, actin, congenital, with excess of thin myofilaments

id8547
nameMyopathy, actin, congenital, with excess of thin myofilaments
variant-disease NM_001100.3(ACTA1):c.49G>C (p.Gly17Arg) AND Myopathy, actin, congenital, with excess of thin myofilaments